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Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment.

ABSTRACT: Purpose: To report a case of autosomal recessive bestrophinopathy (ARB) that presented with macular hole retinal detachment (MHRD). Methods: A case report. Results: A 31-year-old male patient presented with rapid deterioration of vision in the left eye. On fundus examination, bilateral retinal deposits in both eyes, which were brightly hyperautofluorescent, and an MHRD in the left eye could be detected. An electrooculogram demonstrated absent light rise with abnormal Arden's ratio in both eyes. The patient was offered surgery for the MHRD but refused due to the guarded visual prognosis. Follow up of the patient after one year revealed progression of the retinal detachment. Genetic testing revealed a novel, homozygous missense mutation in the BEST1 gene, confirming the diagnosis of ARB. Conclusion: ARB can present with an MHRD. Counseling patients with inherited retinal dystrophies about the visual prognosis following surgical intervention is important.

SUBMITTER: Fouad YA 

PROVIDER: S-EPMC9976030 | biostudies-literature | 2022 Jul-Aug

REPOSITORIES: biostudies-literature

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Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment.

Fouad Yousef Ahmed YA   Tawfik Caroline Atef CA   Nowara Mohamed M  

Journal of vitreoretinal diseases 20220720 4

<b>Purpose:</b> To report a case of autosomal recessive bestrophinopathy (ARB) that presented with macular hole retinal detachment (MHRD). <b>Methods:</b> A case report. <b>Results:</b> A 31-year-old male patient presented with rapid deterioration of vision in the left eye. On fundus examination, bilateral retinal deposits in both eyes, which were brightly hyperautofluorescent, and an MHRD in the left eye could be detected. An electrooculogram demonstrated absent light rise with abnormal Arden's  ...[more]

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